Full data view for gene BARD1

Information The variants shown are described using the NM_000465.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

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Cuadro familiar     

Panel size     

Owner     
./- 7 c.1670G>C p.(Cys557Ser) Hetero no r.(?) - Unknown g.214752454C>G - BARD1_000022 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
+?/- 7 c.1670G>C p.(Cys557Ser) Hetero PALB2 r.(?) - Unknown g.214752454C>G - BARD1_000022 - - DNA SEQ-NG 10-sep-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer Hereditario (30 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53 Multigenetic panel -- Argentinian - - - 1 Virginia Miretti-Hospital de Córdoba
+?/-? 7 c.1670G>C p.(Cys557Ser) Hetero no r.(1670g>c) - Unknown g.214752454C>G - BARD1_000022 - - DNA SEQ-NG 21-dec-2021 Hospital Privado Centro Médico de Córdoba PANEL CÁNCER MAMA-OVARIO (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- Native argentinian - - - 1 Virginia Miretti-Hospital de Córdoba
-/. 7 c.1670G>C p.(Cys557Ser) Hetero no r.(1670g>c) - Unknown g.214752454C>G - BARD1_000022 - - DNA SEQ-NG 02-07-20 Biogenotec Panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel Breast cancer, Uterine leiomyosarcoma Spanish - - Breast cancer, Ovarian cancer 1 Laura Vargas Roig-IMBECU
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